Recruiting diversity where it exists: The Alabama Genomic Health Initiative

May, Thomas; Cannon, Ashley; Moss, Irene; Nakano‐Okuno, Mariko; Hardy, Sharonda; Miskell, Edrika L.; Kelley, Whitley V.; Curry, William A.; East, Kelly M.; Schach, Julie; Sodeke, Stephen O.; Fouad, Mona N.; Johnson, Robert D.; Cimino, James J.; Richards, Jaimie L.; Knight, Sara J.; Korf, Bruce R.

doi:10.1002/jgc4.1258

Cited by 12 publications

(12 citation statements)

References 25 publications

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“…Our results replicate historical patterns of differential use of genetic services [ 28 – 34 ] and highlight the need to recognize geographic, socioeconomic, education, gender, sexual orientation, and racial and ethnic diversity. The Healthy Nevada Project and Alabama Genomic Health Initiative (AGHI) have engaged in a variety of outreach efforts using mass media, public events, multiple site enrollment, and community partnerships and have seen success in recruiting individuals from different racial and ethnic backgrounds [ 35 , 36 ]. On-going and long-term efforts to build trust through stakeholder engagement can also aid recruitment efforts and may be necessary for equitable enrollment [ 37 ].…”

Section: Discussionmentioning

confidence: 99%

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort

et al. 2023

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Background Population screening for genetic risk of adult-onset preventable conditions has been proposed as an attractive public health intervention. Screening unselected individuals can identify many individuals who will not be identified through current genetic testing guidelines. Methods We sought to evaluate enrollment in and diagnostic yield of population genetic screening in a resource-limited setting among a diverse population. We developed a low-cost, short-read next-generation sequencing panel of 25 genes that had 98.4% sensitivity and 99.98% specificity compared to diagnostic panels. We used email invitations to recruit a diverse cohort of patients in the University of Washington Medical Center system unselected for personal or family history of hereditary disease. Participants were sent a saliva collection kit in the mail with instructions on kit use and return. Results were returned using a secure online portal. Enrollment and diagnostic yield were assessed overall and across race and ethnicity groups. Results Overall, 40,857 people were invited and 2889 (7.1%) enrolled. Enrollment varied across race and ethnicity groups, with the lowest enrollment among African American individuals (3.3%) and the highest among Multiracial or Other Race individuals (13.0%). Of 2864 enrollees who received screening results, 106 actionable variants were identified in 103 individuals (3.6%). Of those who screened positive, 30.1% already knew about their results from prior genetic testing. The diagnostic yield was 74 new, actionable genetic findings (2.6%). The addition of more recently identified cancer risk genes increased the diagnostic yield of screening. Conclusions Population screening can identify additional individuals that could benefit from prevention, but challenges in recruitment and sample collection will reduce actual enrollment and yield. These challenges should not be overlooked in intervention planning or in cost and benefit analysis.

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Section: Discussionmentioning

confidence: 99%

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort

et al. 2023

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“…The Healthy Nevada Project and Alabama Genomic Health Initiative (AGHI) have engaged in a variety of outreach efforts using mass media, public events, multiple site enrollment and community partnerships and have seen success in recruiting individuals from different racial and ethnic backgrounds. 31,32 On-going and long-term efforts to build trust through stakeholder engagement can also aid recruitment efforts and may be necessary for equitable enrollment. 33 Dropout between when kits were sent and returned indicates that in-person collection or additional support may be necessary to mitigate difficulties with sample collection.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort

Rao

Kaganovsky

Malouf

et al. 2022

Preprint

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Background: Population screening for genetic risk of adult-onset preventable conditions has been proposed as an attractive public health intervention. Screening unselected individuals can identify many individuals who will not be identified through current genetic testing guidelines. Methods: We sought to evaluate enrollment in and diagnostic yield of population genetic screening in a resource-limited setting among a diverse population. We developed a low-cost, short-read next-generation sequencing panel of 25 genes that had 98.4% sensitivity and 99.98% specificity compared to diagnostic panels. We used email invitations to recruit a diverse cohort of patients in the University of Washington Medical Center system unselected for personal or family history of hereditary disease. Participants were sent a saliva collection kit in the mail with instructions on kit use and return. Results were returned using a secure online portal. Enrollment and diagnostic yield were assessed overall, and across race and ethnicity groups. Results: Overall, 40,857 people were invited and 2,899 (7.1%) enrolled. Enrollment varied across race and ethnicity groups, with the lowest enrollment among African American individuals (3.3%) and the highest among Multiracial or Other Race individuals (13.0%). Of 2,864 enrollees who received screening results, 106 actionable variants were identified in 103 individuals (3.6%). Of those who screened positive, 30.1% already knew about their results from prior genetic testing. The diagnostic yield was 74 new, actionable genetic findings (2.6%). The addition of more recently identified cancer risk genes increased the diagnostic yield of screening. Conclusions: Population screening can identify additional individuals that could benefit from prevention, but challenges in recruitment and sample collection will reduce actual enrollment and yield. These should not be overlooked in intervention planning or in cost and benefit analysis.

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“… 37 Although IiP reduced financial and logistical barriers for some participants, there may still be gaps in educational outreach and engagement with all members of the initiative’s community, which is recommended to reduce disparities in genetic testing and genetic research. 38 , 39 …”

Section: Discussionmentioning

confidence: 99%

Characteristics and experiences of patients from a community-based and consumer-directed hereditary cancer population screening initiative

Greve

Odom

Pudner

et al. 2022

Human Genetics and Genomics Advances

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Summary A clinical hereditary cancer population screening initiative, called Information is Power, began in North Alabama in 2015. After 4 years of the initiative, we were interested in exploring (1) the characteristics and motivations for patients who self-refer to population genetic testing, (2) how patients make decisions on testing, (3) what patients do with results, and (4) patient perceptions of benefits and limitations after undergoing population genetic testing. Patients who consented to research recontact at time of test ordering were sent an electronic survey with the option for a follow-up phone interview. Among the 2,918 eligible patients, 239 responded to the survey and 19 completed an interview. Survey and interview participants were highly educated information seekers motivated by learning more about their health. Those who were previously interested in hereditary cancer testing reported barriers were cost and insurance coverage, access to testing, and uncertainty how results could impact their health. Many participants (77%) communicated with family and friends about their decision to test and communicated about test results. Fewer participants (23%) discussed the decision to test with their healthcare providers; however, 58% of participants discussed their test results with a healthcare provider. Most people (96%) with negative results accurately recalled their results. In contrast, three out of 11 positive results for heterozygous MUTYH , PALB2 , and BRCA2 reported receiving negative results. This study contributes to knowledge on population genetic testing and may guide other population genetic testing programs as they develop enrollment materials and educational materials and consider downstream needs of population genetic testing participants.

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Recruiting diversity where it exists: The Alabama Genomic Health Initiative

Cited by 12 publications

References 25 publications

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort

Diagnostic yield of genetic screening in a diverse, community-ascertained cohort

Characteristics and experiences of patients from a community-based and consumer-directed hereditary cancer population screening initiative

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